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NM_000179.3(MSH6):c.931A>G (p.Lys311Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000520147.1

Allele description [Variation Report for NM_000179.3(MSH6):c.931A>G (p.Lys311Glu)]

NM_000179.3(MSH6):c.931A>G (p.Lys311Glu)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.931A>G (p.Lys311Glu)
HGVS:
  • NC_000002.12:g.47798914A>G
  • NG_007111.1:g.20768A>G
  • NM_000179.3:c.931A>GMANE SELECT
  • NM_001281492.2:c.541A>G
  • NM_001281493.2:c.25A>G
  • NM_001281494.2:c.25A>G
  • NP_000170.1:p.Lys311Glu
  • NP_000170.1:p.Lys311Glu
  • NP_001268421.1:p.Lys181Glu
  • NP_001268422.1:p.Lys9Glu
  • NP_001268423.1:p.Lys9Glu
  • LRG_219t1:c.931A>G
  • LRG_219:g.20768A>G
  • LRG_219p1:p.Lys311Glu
  • NC_000002.11:g.48026053A>G
  • NM_000179.2:c.931A>G
Protein change:
K181E
Links:
dbSNP: rs1323987464
NCBI 1000 Genomes Browser:
rs1323987464
Molecular consequence:
  • NM_000179.3:c.931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.25A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.25A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618355GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 24, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000618355.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted MSH6 c.931A>G at the cDNA level, p.Lys311Glu (K311E) at the protein level, and results in the change of a Lysine to a Glutamic Acid (AAA>GAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Lys311Glu was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Lysine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Lys311Glu occurs at a position that is conserved in mammals and is located in the nuclear localization signal domain (Gassman 2011). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether MSH6 Lys311Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024